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Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria
32
Zitationen
31
Autoren
2025
Jahr
Abstract
At calibrated thresholds, 3 new computational predictors provided evidence for variant pathogenicity at similar strength to the 4 previously recommended predictors (and comparable with functional assays for some variants). This calibration broadens the scope of computational tools for application in clinical variant classification. Their new approaches offer promise for future advancement of the field.
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Autoren
- Timothy Bergquist
- Sarah L. Stenton
- Emily A.W. Nadeau
- Alicia B. Byrne
- Marc S. Greenblatt
- Steven M. Harrison
- Sean V. Tavtigian
- Anne O’Donnell‐Luria
- Leslie G. Biesecker
- Predrag Radivojac
- Steven E. Brenner
- Vikas Pejaver
- Leslie G. Biesecker
- Steven M. Harrison
- Ahmad Abou Tayoun
- Jonathan S. Berg
- Steven E. Brenner
- Garry R. Cutting
- Sian Ellard
- Marc S. Greenblatt
- Peter B. Kang
- Izabela Karbassi
- Rachel Karchin
- Jessica L. Mester
- Anne O’Donnell‐Luria
- Tina Pesaran
- Sharon E. Plon
- Heidi L. Rehm
- Natasha T. Strande
- Sean V. Tavtigian
- Scott Topper
Institutionen
- Icahn School of Medicine at Mount Sinai(US)
- Genomic Health (United States)(US)
- Harvard University(US)
- Broad Institute(US)
- Boston Children's Hospital(US)
- University of Vermont(US)
- Ambry Genetics (United States)(US)
- University of Utah(US)
- Huntsman Cancer Institute(US)
- National Human Genome Research Institute(US)
- National Institutes of Health(US)
- Northeastern University(US)
- University of California, Berkeley(US)